Rudi was diagnosed as having SMA type 1 when he was 6 months old,we became increasingly concerned when his movements seemed limited and he wasn't holding his head up or sitting independently.Blood tests confirmed our worse fears.
Type 1 SMA is considered the most severe form of this devastating life limiting condition.It is caused by the deterioration in the nerve cells connecting the brain and spinal cord to the bodies muscles.As the link between the nerves and muscles break down,activities such as crawling walking sitting and head control progressively weaken.In severe cases respiratory problems mean children may not survive beyond their second birthday.Improvements in health care does however help some type 1 babies.
Rudi appears to be one of the stronger babies for which we are thankful and continues to breath independently without support from ventilation.
The constant worry and fear for our boys uncertain future is heartbreaking.As all parents know we would move heaven and earth for our child.For him to be able to run up to us for a cuddle would be a dream come true.
Their has sadly never been any treatment for SMA and so many children have passed away far to young.The drug Nusinersen has been developed by Biogen and is known now as Spinraza.With amazing results in some chldren already receiving treatment this gives us immense much needed hope.With the approval from the FDA on the 23rd of December 2016 in the states it is now in the process of being approved in Europe .An expanded access programme has now begun in the UK,and some hospitals have been treating Type 1 children with positive results.unfortunately it seems to be a postcode lottery.Time is not on our side,the faster Rudi receives this treatment the more beneficial the possible results.Hospitals in Paris have offered to treat uk patients until wider access becomes available.This will incur hospital fees,transport and accommodation costs on a regular basis.THANKYOU for any possible help.